Results 131 to 140 of about 2,061,243 (253)

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects [PDF]

, 2011
Hannsjörg W. Seyberth, Karl P. Schlingmann   +1 more
openalex   +1 more source

Gangguan Pendengaran pada Anak dengan Sindrom Bartter

Sari Pediatri
Latar belakang. Sindrom Bartter merupakan gangguan tubulus ginjal ditandai dengan hiperaldosteronisme sekunder, alkalosis metabolik hipokalemia, disertai tekanan darah yang normal atau rendah.
Muyassaroh Muyassaroh, Santo Mudha Pratomo, Heru Muryawan   +2 more
doaj   +1 more source

Primary Molecular Disorders and Secondary Biological Adaptations in Bartter Syndrome

International Journal of Nephrology, 2011
Bartter syndrome is a hereditary disorder that has been characterized by the association of hypokalemia, alkalosis, and the hypertrophy of the juxtaglomerular complex with secondary hyperaldosteronism and normal blood pressure.
Georges Deschênes, Marc Fila
doaj   +1 more source

Molecular Characterization of A Novel Mutation In The Renal NaCl Cotransporter Causing Gitelman's Syndrome By Impairing Transporter Trafficking [PDF]

, 2017
Mutations affecting the sodium-chloride cotransporter (NCC) in the distal convoluted tubule of the nephron are causative of Gitelman's syndrome (GS), a rare autosomal recessive disease characterized by electrolytic alterations similar to those induced by
Ravarotto, Verdiana
core   +1 more source

Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p [PDF]

, 1998
Theresa Brennan, Daniel Landau, Hana Shalev, Fred S. Lamb, Brian C. Schutte, Roxanne Y. Walder, Allyn L. Mark, Rivka Carmi, Val C. Sheffield   +8 more
openalex   +1 more source

Inappropriate Antidiuresis: Examples of an Hyponatremic Syndrome Resembling Exogenous Vasopressin Administration in Man [PDF]

, 1966
We have reviewed some of the features of hyponatremic syndromes, unassociated with sodium retention and edema, but associated with primary water retention.
Bower, John D., Kirkland, Richard H., Klingler, Eugene L., Lancestremere, Ruben G., Magee, Joseph H.   +4 more
core   +1 more source

Endocochlear potential depends on Cl− channels: mechanism underlying deafness in Bartter syndrome IV [PDF]

, 2008
Gesa Rickheit, H. Maier, Nicola Strenzke, Corina Andreescu, Chris I. De Zeeuw, A. Muenscher, Anselm A. Zdebik, Thomas J. Jentsch   +7 more
openalex   +1 more source

Prevention of cardiac arrhythmias in pediatric patients with normotensive-hypokalemic tubulopathy: Current attitude among European pediatricians [PDF]

, 2018
Potassium deficiency predisposes to cardiac arrhythmias culminating in syncope or sudden death. Because of the uncertainty related to the possible occurrence of such cardiac arrhythmias in the context of normotensive-hypokalemic tubulopathies, 19 ...
Bettinelli, Alberto, Bianchetti, Mario, Cortesi, Cinzia, Foglia, Pietro   +3 more
core  

Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis

, 2022
Anshuman Saha, Priyadarshini Pande, Kinnari Vala, Shahenaz Kapadia, Himanshu V. Patel   +4 more
openalex   +2 more sources

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

罕见病研究
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source